Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer

SHOX, is a gene implicated in human growth.  Defects in SHOX, or its regulatory regions have been observed in ~60% of Léri-Weill dyschondrosteosis (LWD) patients, a skeletal dysplasia, and in 2-5% of idiopathic short stature (ISS) patients.  In this study, we identified the first recurrent deletion within the SHOX regulatory region in these disorders, 19/124 […]

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Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

Holoprosencephaly is a common human brain malformation; there are many different known causes.  Sonic Hedgehog was the first gene in which mutations were found to cause holoprosencephaly .  Some individuals with Sonic Hedgehog mutations have very severe brain and facial malformations, and do not survive to be born.  However, some people have only subtle facial […]

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Translational Genomic Medicine: Common Metabolic Traits and Ancestral Components of Mexican Americans

Obesity, type 2 diabetes, hyperlipidaemia, hypertension and liver disease are common metabolic disorders in Mexican Americans, the largest minority population in the US. Mexican Americans are an admixed population with European, Amerindian and African ancestries. Ancestral analysis by genotyping a set of ancestry informative markers (AIMs) in this study identified associations between ancestral components and […]

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The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

The immune system relies on a finely tuned balance between immunity to pathogens and cancers, and tolerance to healthy self, our environment and commensals. This equilibrium is dramatically disrupted in the Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. This rare disorder is caused by mutations in the FOXP3 gene, a master transcriptional regulator for the development […]

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Prostate cancer risk assessment model: a scoring model based on the Swedish Family-Cancer Database

Prostate cancer is the most common cancer in men and family history of cancer and age are the strongest contributing factors. We followed about 600,000 men from the Swedish Family-Cancer Database (world’s largest of its kind) for 10 years to design the Prostate Cancer Risk Assessment Model (PCRAM) for the first time, which enables clinicians […]

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Mutations in GRIP1 cause Fraser syndrome

Fraser syndrome (FS) is a rare genetically heterogeneous recessive disorder. FS patients are born with severe malformations affecting their eyes (cryptophthalmos), skin covering the digits (cutaneous syndactyly), respiratory tract, kidneys and genitals. The molecular defect underlying the majority of FS patients is unknown. Thus far mutations in two genes (FRAS1 and FREM2) are known to […]

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Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles

Molar pregnancies are abnormal pregnancies in which the placenta develops excessively and there is no normal fetal development. They are important because molar tissue can easily develop into a placental tumour for which the patient would need chemotherapy. Molar pregnancies are usually chance (sporadic) occurrences but occasionally women have an inherited predisposition to these pregnancies […]

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Promoter methylation in coagulation F7 gene influences plasma FVII concentrations and relates to coronary artery disease

Coagulation factor VII (FVII) is a clotting protein which triggers thrombus formation in the arterial vessels and modulates coronary artery disease (CAD) risk. Plasma FVII concentrations are largely determined by genetic markers as the A2 allele causing lower FVIIa and reduced CAD risk, or the -402A allele that induces higher FVIIa. Other mechanisms such as […]

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Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele

An omphalocele is a birth defect affecting about 1 in 5000 live births and characterized by the internal organs located outside the abdomen.  We conducted a genetic study using linkage analysis and microarray with quantitative microsphere hybridization techniques in a large family with multiple affected individuals and found a 710 kb duplication of chromosome band […]

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Identification of YAP1 as a novel susceptibility gene for polycystic ovary syndrome

Polycystic ovary syndrome (PCOS), characterized by menstrual irregularity, hyperandrogenism and polycystic ovarian morphology, is the most common endocrinopathy in reproductive-aged women leading to anovulatory infertility. Its clinical manifestations and complications are well elaborated while the pathogenesis is obscure. In the current study, the authors took advantage of recently published genome-wide association study and proceeded replication […]

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